Evidence map›Paper›PMID 23638056›Full record

ArticlePloS one2013

Fine mapping and functional analysis of the multiple sclerosis risk gene CD6.

Bhairavi Swaminathan, Angélica Cuapio, Iraide Alloza, Fuencisla Matesanz, Antonio Alcina, Maria García-Barcina, Maria Fedetz, Oscar Fernández, Miguel Lucas, Teresa Orpez and 10 more

Open access · goldAbstract read
In one paragraph

Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
1.0field-weighted citation impact, top 25% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

15 citing papers in PubMed, 28 citations in OpenAlex.

  1. Article
  2. The immune system in neurological diseases: What innate-like T cells have to say.The Journal of allergy and clinical immunology · 2024
    Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

20 authors at 11 institutions in 3 countries.

Bhairavi SwaminathanNeurogenomiks Laboratory, University of the Basque Country (UPV/EHU), Leioa, Spain.
Angélica Cuapio
Iraide Alloza
Fuencisla Matesanz
Antonio Alcina
Maria García-Barcina
Maria Fedetz
Oscar Fernández
Miguel Lucas
Teresa Orpez
M Jesus Pinto-Medel
David Otaegui
Javier Olascoaga
Elena Urcelay
Miguel A Ortiz
Rafael Arroyo
Jorge R Oksenberg
Alfredo Antigüedad
Eva Tolosa
Koen Vandenbroeck
Consejo Superior de Investigaciones Científicas · ESHospital Regional Universitario de Málaga · ESInstituto de Investigación Sanitaria del Hospital Clínico San Carlos · ESBiogipuzkoa Health Research Institute · ESHospital de Basurto · ESUniversity of the Basque Country · ESHospital Universitario Virgen Macarena · ESIkerbasque · ESUniversität Hamburg · DEUniversity Medical Center Hamburg-Eppendorf · DEUniversity of California, San Francisco · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

CD6 has recently been identified and validated as risk gene for multiple sclerosis (MS), based on the association of a single nucleotide polymorphism (SNP), rs17824933, located in intron 1. CD6 is a cell surface scavenger receptor involved in T-cell activation and proliferation, as well as in thymocyte differentiation. In this study, we performed a haptag SNP screen of the CD6 gene locus using a total of thirteen tagging SNPs, of which three were non-synonymous SNPs, and replicated the recently reported GWAS SNP rs650258 in a Spanish-Basque collection of 814 controls and 823 cases. Validation of the six most strongly associated SNPs was performed in an independent collection of 2265 MS patients and 2600 healthy controls. We identified association of haplotypes composed of two non-synonymous SNPs [rs11230563 (R225W) and rs2074225 (A257V)] in the 2(nd) SRCR domain with susceptibility to MS (P max(T) permutation = 1×10(-4)). The effect of these haplotypes on CD6 surface expression and cytokine secretion was also tested. The analysis showed significantly different CD6 expression patterns in the distinct cell subsets, i.e. - CD4(+) naïve cells, P = 0.0001; CD8(+) naïve cells, P<0.0001; CD4(+) and CD8(+) central memory cells, P = 0.01 and 0.05, respectively; and natural killer T (NKT) cells, P = 0.02; with the protective haplotype (RA) showing higher expression of CD6. However, no significant changes were observed in natural killer (NK) cells, effector memory and terminally differentiated effector memory T cells. Our findings reveal that this new MS-associated CD6 risk haplotype significantly modifies expression of CD6 on CD4(+) and CD8(+) T cells.

Indexed as

Chromosome MappingAdultAntigens, CDAntigens, Differentiation, T-LymphocyteCD4-Positive T-LymphocytesCD8-Positive T-LymphocytesCluster AnalysisCytokinesFemaleGene OrderGenetic LociGenetic Predisposition to DiseaseHaplotypesHumansLinkage DisequilibriumLymphocyte ActivationAntigens, CDAntigens, Differentiation, T-LymphocyteCD6 antigenCytokines

Identifiers

PMID23638056
PMCPMC3634811
OpenAlexW1980011282

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.